Genomics England
GMS Panels
Panels
Genes and Entities

SPINT2

serine peptidase inhibitor, Kunitz type 2
OMIM: 605124
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420, congenital secretory sodium diarrhea 3, MONDO:0010036
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420